November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
36 citations
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September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
25 citations
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October 2000 in “Gene” Gene regulatory regions evolve faster than protein coding regions, allowing new gene relationships without changing transcription factors.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
August 2025 in “Nanomaterials” Tea polyphenol–zinc helps protect the liver and intestines from oxidative stress.
23 citations
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March 2019 in “Gene” Editing the FGF5 gene in sheep increases wool length, confirming its role in hair growth.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
28 citations
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October 2014 in “Development” Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.
3 citations
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May 2024 in “Poultry Science” Certain genes are crucial for feather development in Wannan chickens.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
December 2023 in “Journal of nutritional science and vitaminology” A zinc-deficient diet stunted growth and affected organs in mice, with C57BL/6J mice showing more severe symptoms.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
2 citations
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August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
2 citations
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January 1977 in “PubMed” 104 citations
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July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
1 citations
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January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
August 2024 in “Archives of Dermatological Research” CHI3L1 and CXCL5 proteins help promote hair growth.
54 citations
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October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
1 citations
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
July 2025 in “Journal of Investigative Dermatology”